OMIM 235510 | DiseasesDB 32192 | |
Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal lymphagiectasia–lymphedema–mental retardation syndrome is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".
In a subset of patients it is associated with CCBE1 according research published by its namesake, Raoul Hennekam. Other causal mutations were found in the FAT4 gene. Previously, mutations in the FAT4 gene had been only associated with van Maldergem syndrome. The molecular etiology of the lymphedema phenotype in CCBE1-associated cases was identified as a diminished ability of the mutated CCBE1 to accelerate and focus the activation of the primary lymphangiogenic growth factor VEGF-C.